Sunday, July 31, 2011

Cardiology Merry-Go-Round

Once again, we have a new pediatric cardiologist for Clare. This is our fourth cardiologist in six years. We loved #1 (who we met when Clare was barely 24 hours old), but she moved to Virginia. #2 was nice personally, but really disappointed us professionally. #3 was incredible personally and professionally, but having Clare's primary cardio in Boston did not end up working for our family and Clare's various medical needs. So we're on #4. We switched back to Children's Hospital at Dartmouth, but went with a new doctor practicing there.

We met Dr. G for the first time at Clare's six-month visit on Friday - EKG, echo, and examination. Dr. G is young, vibrant, thorough, and wonderful with Clare. A good fit for us so far. Her office is literally seven minutes from our house, we know from experience that we can pop in for a quick peek or blood pressure check if the occasion arises, and she practices in the same larger group as Clare's pediatrician, endocrinologist, and nephrologist, so they have access to each other's notes and Clare's medical records. That all works for us, so I pray that Dr. G works out! We've never really been that picky or unhappy with any of our providers, so it's been weird to feel as if we have not really had a cardiologist on board over the past two years.

Clare's visit went as well as expected. She remains clinically stable, which is the good news. Her gradients remain about the same, and her blood vessels are growing, but still not at a great rate (this is not unexpected with the severity of Clare's stenosis). The echo could not get a really good view of the pulmonary stents, so it's unknown how they're holding up. (Four years ago, one of Clare's stents was actually crushed in her artery and the echo did not pick that up. The doctors found out when they were in there during a cath.) Her ascending aorta and arch continues to look fabulous (this is the portion that was surgically repaired six years ago). Her descending aorta continues to also look stenosis-free. Her EKG was solid, and based on that, her coronary arteries seem to be good as well. Her blood pressures were fabulous, so she can continue off any hypertension meds. We have been monitoring her weekly for over a year now off meds, and the pressures are usually very good for Clare's condition. Her pulses were good, and all-in-all, a wonderful examination.

However... (and here it is, the not-so-good news)... Dr. G agrees with the previous cardiologist's assessment that Clare should undergo a cardiac catheterization in the near future. Prior to Clare's appointment, Dr. G had already spoken with Dr. B, the liaison cardiologist in Boston (Dr. B is a different cardio than the one we had been seeing as a primary in Boston, and he has been involved with Clare's case since her first catheterization at three months old - Dr. B is our cardiologist whenever Clare is inpatient at Children's - I know, it gets confusing!), and she reviewed the Boston echos on paper (Shawn is going to get her a digital copy of the actual echo video). Since it has been an amazing four years since Clare last underwent a cath, all agree that it is time to look at what's going on inside her vessels, other than just doing echos. Right now, the plan is to do another full work-up with Dr. G here in Manchester in six months, then schedule the cath a few weeks after that.

Dr. G cannot say right now what the plan will be during the cath, but we have been through this six times before and are quite familiar with the nature of this beast. I am 99.9% sure that Clare will have her pulmonary stents and smaller pulmonary vessels dilated. At the very least, the doctors will shoot a lot of dye and take a lot of pictures! They will be able to get better views on how her stents are holding up, what her coronary arteries look like, and maybe even exactly what her renal arteries look like (we've had those scanned recently, but a cath is always more accurate). So we'll hold tight for six months and take it from there.

2 comments:

kim p
said...

Good Luck with her! I liked her personally- maybe a little too friendly (talking about her twins)- but she was able to diagnose M's left anterior fascicular blockage- but didn't have a lot of info beyond that to give me (other than an internet print out)- my trip to Boston Children's confirmed that her diagnosis was accurate. She seems good. Good luck with Clare's journey- thinking of you!

Wow, the body never ceases to amaze me. Did you ever think the A and P you took only (a few) years ago would play such a huge role in your life? The details you give in your description of what is going on with her show just how dedicated you are to getting her the best possible care. Clare is such a beautiful child and was given into your care for because of this dedication. I miss seeing you guys, but love being updated on how life is going on your blog!

About Us

Married to my college sweetheart Shawn for 14 years, we have six children - Jamie (11), Clare (9), Simon (7), Violet (5), Eliza (3), and Cecily (1).
Our second child, Clare, was born with a rare genetic condition, Williams syndrome, severe congenital heart defects (pulmonary stenosis and aortic stenosis), a Chiari Malformation, mid-aortic syndrome, and kidney issues. She has undergone one open heart surgery and ten cardiac catheterizations to repair her cardiac and vascular defects and has also undergone a frenulectomy (tongue-tie release) and an angio-embolization of her radial artery to repair an A-V fistula and aneurysm. On May 1, she had her longest surgery yet - a bypass graft of her abdominal aorta, a bypass graft of her SMA vessel, and a kidney re-transplant (kidneys transplanted elsewhere in her body).
I began this blog when Clare was an infant to chronicle our life on this new journey into Williams syndrome and raising a child with special needs and a chronic heart condition. As our family has grown over the years, now it more details our life as a large Catholic family (while raising a child with special needs and a chronic medical needs)!

Our Children

Jamie, age 10

Clare, age 7

Simon, age 5

Violet, age 4

Eliza, age 1

What Is Williams Syndrome?

Williams syndrome is a rare genetic condition (estimated to occur in 1/10,000 births) which causes medical and developmental problems. Williams syndrome was first recognized as a distinct entity in 1961. It is present at birth, and affects males and females equally. It can occur in all ethnic groups and has been identified in countries throughout the world. Williams syndrome is caused by a spontaneously occurring deletion of 20 genes on chromosome #7, including the gene that makes the protein elastin, which provides strength and elasticity to vessel walls. The heart and blood vessel abnormalities are caused by this lack of elastin.

Most young children with Williams syndrome are described as having similar facial features. These features include a small upturned nose, wide mouth, full lips, small chin, and puffiness around the eyes. Blue and green-eyed children with Williams syndrome can have a prominent "starburst" or white lacy pattern on their iris.

The majority of individuals with Williams syndrome have some type of heart or blood vessel problem. Typically, there is narrowing in the aorta (producing supravalvular aortic stenosis SVAS), or narrowing in the pulmonary arteries. There is a broad range in the degree of narrowing, ranging from trivial to severe (requiring surgical correction of the defect).

Individuals with Williams syndrome have a very endearing personality. They have a unique strength in their expressive language skills, and are extremely polite. They are typically unafraid of strangers and show a greater interest in contact with adults than with their peers.